Variant report

Variant	rs516855
Chromosome Location	chr1:175832739-175832740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16849335	1.00[EUR][1000 genomes]
rs4652136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474868	1.00[ASN][1000 genomes]
rs506265	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527449	0.86[ASW][hapmap]
rs551529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555060	1.00[ASN][1000 genomes]
rs556946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175827400-175832800	Weak transcription	Fetal Brain Female	brain
2	chr1:175829800-175835000	Enhancers	Fetal Intestine Large	intestine
3	chr1:175830400-175834800	Enhancers	Fetal Intestine Small	intestine
4	chr1:175830800-175833000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:175830800-175834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:175831200-175832800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:175831400-175836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:175831400-175836400	Enhancers	Brain Anterior Caudate	brain
9	chr1:175831600-175833000	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:175831600-175833400	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:175831600-175834000	Enhancers	Brain Germinal Matrix	brain
12	chr1:175831600-175834200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr1:175831600-175834200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:175831600-175834200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:175831600-175834800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:175831600-175836200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:175831600-175837000	Enhancers	Brain Substantia Nigra	brain
18	chr1:175831600-175837200	Enhancers	Brain Angular Gyrus	brain
19	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
20	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:175831800-175833800	Enhancers	Fetal Muscle Leg	muscle
22	chr1:175831800-175834000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr1:175831800-175834600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:175831800-175836200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:175831800-175836200	Enhancers	Fetal Brain Male	brain
26	chr1:175832000-175832800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:175832000-175834200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:175832000-175836200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:175832400-175832800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr1:175832600-175832800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:175832600-175833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:175832600-175833200	Enhancers	Fetal Heart	heart

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